Diseases & Conditions


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Familial Lipoprotein Lipase Deficiency


Synonyms of Familial Lipoprotein Lipase Deficiency
  • chylomicronemia, familial
  • hyperchylomicronemia, familial
  • hyperlipemia, essential familial
  • hyperlipemia, idiopathic, Burger-Grutz type
  • hyperlipoproteinemia, type 1A
  • lipase D deficiency
  • LIPD deficiency
  • lipoprotein lipase deficiency
  • lipoprotein lipase, included; LPL, included
  • LPL deficiency

Disorder Subdivisions



    General Discussion
    Familial lipoprotein lipase deficiency is a rare hereditary enzyme deficiency that results in abnormal breakdown of fats in the body. It is characterized by a massive accumulation of fatty droplets (chylomicrons) in blood plasma and a corresponding increase of the blood plasma concentration of fatty substances called triglycerides. The disorder is caused by a mutation in the LPL gene leading to very low or absent activity of the lipoprotein lipase enzyme.

    Symptoms of familial LPL deficiency usually begin in childhood and include abdominal pain, acute and recurrent inflammation of the pancreas (pancreatitis), skin lesions called eruptive cutaneous xanthoma and an enlargement of the liver and spleen (hepatosplenomegaly).

    Organizations related to Familial Lipoprotein Lipase Deficiency
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Genetic and Rare Diseases (GARD) Information Center
      PO Box 8126
      Gaithersburg MD 20898-8126
      Phone #: 301-519-3194
      800 #: 888-205-2311
      e-mail: gardinfo@nih.gov
      Home page: http://www.genome.gov/10000409
    • NIH/National Digestive Diseases Information Clearinghouse
      2 Information Way
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: 800-891-5389
      e-mail: nddic@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html